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Imprinting Disorders (Prader-Willi and Angelman), Prader-Willi, Angelman,…
Imprinting Disorders (Prader-Willi and Angelman)
genomic imprinting
is epigenetic methylation resulting in selective inactivation of genes
Prader-Willi
.
mutation/microdeletion in paternal chromosome 15q11-13
maternal is silenced
clinical features
infancy
hypotonia
feeding difficulties
failure to thrive
childhood/adulthood
short stature
small hands and feet
small genitalia
hypogonadism d/t growth hormone deficiency
hyperphagia d/t :arrow_up: ghrelin
obesity
obsessive-compulsive disorders
Angelman
.
mutation/microdeletion in maternal UBE3A gene or any pertaining segments on chromosome 15 (q11-13)
paternal is silenced
clinical features
microcephaly
seizures
ataxia
inappropriate/atypical laughter
happy/exciteable personality
hand flapping
Similarities
caused by:
mutations/deletions in chromosome 15
clinical features
intellectual disability